Canonical Allele Identifier: CA4625131
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs771523570
ExAC: 8:10470050 GGCCGCCTTGCTCTGGGCC / G
gnomAD v2: 8-10470050-GGCCGCCTTGCTCTGGGCC-G
gnomAD v4: 8-10612540-GGCCGCCTTGCTCTGGGCC-G
MyVariant Identifiers: chr8:g.10470051_10470068del (hg19) chr8:g.10612541_10612558del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612544_10612561del , CM000670.2:g.10612544_10612561del GRCh38
NC_000008.10:g.10470054_10470071del , CM000670.1:g.10470054_10470071del GRCh37
NC_000008.9:g.10507464_10507481del NCBI36
NG_028035.1:g.47550_47567del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1540_1557del MANE Select ENSP00000371923.3:p.Gly514_Gly519del
ENST00000382483.3:c.1540_1557del ENSP00000371923.3:p.Gly514_Gly519del
NM_178857.5:c.1540_1557del NP_849188.4:p.Gly514_Gly519del
NM_178857.6:c.1540_1557del MANE Select NP_849188.4:p.Gly514_Gly519del
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